P12S (p.Pro12Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
P12S (p.Pro12Ser) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- rs587782084
- ClinGen CA071083
- ClinVar RCV001020461
- ClinVar RCV001316018
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.35
- MetaLR 0.40
- MetaSVM -0.30
- CADD 18.70
- PolyPhen-2 0.06
- SIFT 0.66
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)